菜单 基因医生

该基因编码一个无名指间环(RBR)蛋白家族成员,编码的蛋白包含两个无名指基序和一个介于无名指间的基序该蛋白是一种定位于lewy小体的e3泛素连接酶,泛素使神经元中α-突触核蛋白的相互作用蛋白synfilin-1酸化。编码蛋白可能与肌萎缩性侧索硬化和帕金森病有关选择性剪接导致多个转录变体[由RefSeq提供,2013年7月]
This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

基因名:RNF19A
别名:RNF19
基因ID:25897
Chromosome:
(GRCh37)
8 Start: 101269285 End: 101348446 Strand: 
信号通路:  
RNF19A 基因突变与药物